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Stiff-person syndrome (SPS) is often separated into several subtypes, based on the cause and progression of the disease. There are three clinical classifications of SPS: Classic SPS, associated with other autoimmune conditions and usually GAD-positive; Partial SPS variants; Progressive encephalomyelitis with rigidity and myoclonus (PERM) [4]
Signs and symptoms of this progressive disease tend to become more marked as the child ages. Later, the condition causes wrinkled skin, kidney failure, loss of eyesight, and atherosclerosis and other cardiovascular problems. [12] Scleroderma, a hardening and tightening of the skin on trunk and extremities of the body, is prevalent.
Werner syndrome patients exhibit growth retardation, short stature, premature graying of hair, alopecia (hair loss), wrinkling, prematurely aged faces with beaked noses, skin atrophy (wasting away) with scleroderma-like lesions, lipodystrophy (loss of fat tissues), abnormal fat deposition leading to thin legs and arms, and severe ulcerations around the Achilles tendon and malleoli (around ankles).
Multiple epiphyseal dysplasia (MED), also known as Fairbank's disease, is a rare genetic disorder (dominant form: 1 in 10,000 births) that affects the growing ends of bones. Long bones normally elongate by expansion of cartilage in the growth plate (epiphyseal plate) near their ends.
This mouse strain recapitulates many of the features of the human disease and promises to provide insights into the pathogenesis of the disease. Reducing the level of normal fibrillin 1 causes a Marfan-related disease in mice. [34] Transforming growth factor beta plays an important role in MFS. Fibrillin-1 directly binds a latent form of TGF-β ...
Standing for more than two hours a day saw increased circulatory disease risks. Standing too much can raise the risk of circulatory disease, a new study says. Experts say the key is to 'just move.'
PARGC1A gene key to weight loss. At the study’s conclusion, researchers found that participants in the exercise group who had the most “skinny genes” lost up to 5 kg (about 11 lbs) during ...
One option includes treatment for a disease or disorder that may be contributing to the balance problem, such as ear infection, stroke, multiple sclerosis, spinal cord injury, Parkinson's, neuromuscular conditions, acquired brain injury, cerebellar dysfunctions and/or ataxia, or some tumors, such as acoustic neuroma. Individual treatment will ...